Soft tissue mass
|
phenotype |
|
Anatomical Abnormality
|
12
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Abnormality of the Achilles tendon
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
10 |
3
|
2012 |
2019 |
Neuropathy, hereditary motor and sensory, Okinawa type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.700 |
None |
1.000 |
9 |
2
|
2012 |
2017 |
Hereditary Motor and Sensory Neuropathies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.050 |
None |
1.000 |
5 |
1
|
2012 |
2019 |
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.040 |
None |
1.000 |
4 |
3
|
2016 |
2018 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2018 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.020 |
None |
1.000 |
2 |
2
|
2014 |
2019 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.310 |
strong |
1.000 |
2 |
|
2016 |
2018 |
Motor neuron atrophy
|
disease |
|
Disease or Syndrome
|
138
|
21
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2017 |
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Diabetic Nephropathy
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1189
|
238
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Liver diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1019
|
100
|
0.010 |
None |
1.000 |
1 |
|
1992 |
1992 |
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
171
|
50
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Peripheral Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
351
|
81
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Spastic Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
144
|
93
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
144
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Impaired glucose tolerance
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
596
|
81
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Mixed sensory-motor polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
8
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Complicated hereditary spastic paraplegia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Acute Coronary Syndrome
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
440
|
139
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Tubulointerstitial fibrosis
|
phenotype |
|
Disease or Syndrome
|
328
|
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |